Detalhe da pesquisa
1.
Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications.
Am J Hum Genet
; 109(8): 1421-1435, 2022 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35830857
2.
New insights into the clinical and molecular spectrum of the MADD-related neurodevelopmental disorder.
J Hum Genet
; 2024 Mar 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38459224
3.
Delineating the phenotype of PNPLA8-related mitochondriopathies.
Clin Genet
; 105(1): 92-98, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37671596
4.
Expanding the phenotypic spectrum and clinical severity associated with WLS gene.
J Hum Genet
; 68(9): 607-613, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37106064
5.
A founder PPIL1 variant underlies a recognizable form of microlissencephaly with pontocerebellar hypoplasia.
Clin Genet
; 104(3): 356-364, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37190898
6.
CHST3-related skeletal dysplasia in 14 patients: Identification of 8 novel variants and further expansion of the phenotypic spectrum.
Am J Med Genet A
; 191(8): 2100-2112, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37183573
7.
Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation.
Brain
; 145(4): 1551-1563, 2022 05 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-34694367
8.
A homozygous loss-of-function variant in BICD2 is associated with lissencephaly and cerebellar hypoplasia.
J Hum Genet
; 67(11): 669-673, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-35896821
9.
OTUD6B-associated intellectual disability: novel variants and genetic exclusion of retinal degeneration as part of a refined phenotype.
J Hum Genet
; 67(1): 55-64, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34354232
10.
El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype.
Clin Genet
; 101(5-6): 530-540, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35322404
11.
DTYMK is essential for genome integrity and neuronal survival.
Acta Neuropathol
; 143(2): 245-262, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34918187
12.
Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9-associated disease trait.
Am J Med Genet A
; 188(2): 648-657, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34761517
13.
Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses.
Am J Med Genet A
; 188(3): 735-750, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34816580
14.
Fetal brain arrest broadens the spectrum of WDR81-related developmental brain malformations.
Neurogenetics
; 22(4): 287-295, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34338917
15.
Expanding the KIF4A-associated phenotype.
Am J Med Genet A
; 185(12): 3728-3739, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34346154
16.
Asparagine Synthetase Deficiency with Intracranial Hemorrhage Can Mimic Molybdenum Cofactor Deficiency.
Neuropediatrics
; 52(3): 201-207, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33271615
17.
Two Abnormal Cell Lines of Trisomy 14 and t(X;14) with Skewed X-Inactivation.
Cytogenet Genome Res
; 160(3): 124-133, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32187602
18.
KBG syndrome in two patients from Egypt.
Am J Med Genet A
; 182(6): 1309-1312, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32222090
19.
Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation.
Am J Med Genet A
; 182(6): 1407-1420, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32267100
20.
Further Insights into Developmental Brain Malformations and Leukoencephalopathy Associated with 6p25.3 Deletion.
Neuropediatrics
; 51(1): 76-82, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31634935